AutismKB 2.0

Evidence Details for XRN1


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Basic Information Top
Gene Symbol:XRN1 ( DKFZp434P0721,DKFZp686B22225,DKFZp686F19113,FLJ41903,SEP1 )
Gene Full Name: 5'-3' exoribonuclease 1
Band: 3q23
Quick LinksEntrez ID:54464; OMIM: 607994; Uniprot ID:XRN1_HUMAN; ENSEMBL ID: ENSG00000114127; HGNC ID: 30654
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XRN1|54464|nucleotide
ATGGGAGTCCCCAAGTTTTACAGATGGATCTCAGAGCGGTATCCCTGTCTCAGCGAAGTGGTGAAAGAGCATCAGATTCCTGAATTTGACAACTTGTACCTGGAT
ATGAATGGAATTATACATCAGTGCTCCCATCCTAATGATGATGATGTTCACTTTAGAATTTCAGATGATAAAATCTTTACTGATATTTTTCACTACCTGGAGGTG
TTGTTTCGCATTATTAAACCCAGGAAAGTGTTCTTTATGGCTGTAGATGGTGTGGCTCCTCGAGCAAAAATGAACCAGCAGCGTGGGAGGCGTTTTAGGTCAGCA
AAGGAGGCAGAAGACAAAATTAAAAAGGCAATAGAGAAGGGAGAAACTCTTCCTACAGAGGCCAGATTTGATTCCAACTGTATCACACCAGGAACTGAATTTATG
GCCAGGTTACATGAACATCTGAAGTATTTTGTAAATATGAAAATTTCCACAGACAAGTCATGGCAAGGAGTTACCATCTACTTCTCAGGCCATGAGACTCCTGGA
GAAGGAGAGCATAAAATCATGGAATTTATCAGATCCGAGAAAGCAAAGCCAGATCATGATCCAAACACCAGACACTGTCTTTATGGTTTAGATGCTGACTTGATT
ATGCTTGGATTAACAAGTCATGAGGCACATTTTTCTCTCTTAAGAGAAGAAGTTCGATTTGGTGGCAAAAAAACACAACGGGTATGTGCTCCAGAAGAAACTACA
TTTCACCTTCTACACTTGTCTTTAATGAGAGAGTATATTGACTATGAGTTTTCAGTATTAAAAGAAAAGATCACATTTAAATATGATATTGAAAGGATAATAGAT
GATTGGATTTTGATGGGGTTTCTTGTTGGTAATGATTTTATCCCTCATCTACCTCATTTACATATTAATCATGATGCACTGCCTCTTCTTTATGGAACATATGTT
ACCATCCTGCCAGAACTTGGGGGTTATATTAATGAAAGTGGGCACCTCAACTTACCTCGATTTGAGAAATACCTTGTGAAACTATCAGATTTTGATCGGGAGCAC
TTCAGTGAAGTTTTTGTGGACCTAAAATGGTTTGAAAGCAAAGTTGGTAACAAGTACCTCAATGAAGCAGCAGGTGTCGCAGCAGAAGAAGCCAGGAACTACAAG
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>XRN1|54464|protein
MGVPKFYRWISERYPCLSEVVKEHQIPEFDNLYLDMNGIIHQCSHPNDDDVHFRISDDKIFTDIFHYLEVLFRIIKPRKVFFMAVDGVAPRAKMNQQRGRRFRSA
KEAEDKIKKAIEKGETLPTEARFDSNCITPGTEFMARLHEHLKYFVNMKISTDKSWQGVTIYFSGHETPGEGEHKIMEFIRSEKAKPDHDPNTRHCLYGLDADLI
MLGLTSHEAHFSLLREEVRFGGKKTQRVCAPEETTFHLLHLSLMREYIDYEFSVLKEKITFKYDIERIIDDWILMGFLVGNDFIPHLPHLHINHDALPLLYGTYV
TILPELGGYINESGHLNLPRFEKYLVKLSDFDREHFSEVFVDLKWFESKVGNKYLNEAAGVAAEEARNYKEKKKLKGQENSLCWTALDKNEGEMITSKDNLEDET
EDDDLFETEFRQYKRTYYMTKMGVDVVSDDFLADQAACYVQAIQWILHYYYHGVQSWSWYYPYHYAPFLSDIHNISTLKIHFELGKPFKPFEQLLAVLPAASKNL
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 1 (3) 1 (1) 0 (0) 0 (0) 13 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018